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1.
Plant Biol (Stuttg) ; 2024 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-38858861

RESUMO

Petunia hybrida, widely grown as a bedding plant, has reduced growth and flower quality at temperatures above 30 °C (heat stress), primarily due to heat stress-induced ethylene (ET) production. The gene acdS encodes the 1-aminocyclopropane-1-carboxylate (ACC) deaminase (ACCD) enzyme, which is known for its role in reducing ET production by breaking down the ET precursor, ACC, in plant tissues. This study investigated the impact of heat stress on both 'Mirage Rose' WT petunia and its acdS-overexpressing transgenic lines. Heat stress-induced growth inhibition was observed in WT plants but not in transgenic plants. The increased stress tolerance of transgenic plants over WT plants was associated with lower ET production, ROS accumulation, higher SPAD values, water content, and relative water content. Furthermore, higher sensitivity of the WT to heat stress than the transgenic plants was confirmed by analysing ET signalling genes, heat shock transcription factor genes, and antioxidant- and proline-related genes, more strongly induced in WT than in transgenic plants. Overall, this study suggests the potential application of acdS overexpression in other floriculture plants as a viable strategy for developing heat stress-tolerant varieties. This approach holds promise for advancing the floricultural industry by overcoming challenges related to heat-induced growth inhibition and loss of flower quality.

2.
Ultrasound Obstet Gynecol ; 58(2): 214-220, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-32730679

RESUMO

OBJECTIVE: To investigate whether gestational age at intervention (< or ≥ 16 weeks) and other factors affect the risk of loss of the cotwin after selective fetal reduction using radiofrequency ablation (RFA) in monochorionic (MC) pregnancy. METHODS: This was a single-center retrospective analysis of 63 consecutive RFA procedures performed at our institution from January 2011 to October 2019 for selective fetal reduction in complicated MC pregnancies. Indications for RFA were twin reversed arterial perfusion sequence (13 cases), twin-to-twin transfusion syndrome (12 cases), twin anemia-polycythemia sequence (two cases), selective fetal growth restriction (10 cases), discordant anomalies (17 cases) and multifetal pregnancy reduction in triplets or quadruplets with a MC pair (nine cases). Twenty-six (41.3%) of these procedures were performed before and 37 (58.7%) after 16 weeks. Potential factors that could affect the risk of loss of the cotwin, including gestational age at RFA, order of multiple pregnancy, amnionicity, indication for RFA and number of ablation cycles, were assessed first by univariate analysis and then by multivariate analysis. RESULTS: There were 17 (27.0%) cotwin losses. Ablation cycles numbering four or more was the only factor among those investigated to be associated with loss of the cotwin after RFA (P = 0.035; odds ratio, 5.21), while the indication for RFA, order of multiple pregnancy, amnionicity and gestational age at RFA had no effect. Comparing RFA performed at < 16 vs ≥ 16 weeks, there was no difference in the rate of cotwin loss (23.1% vs 29.7%; P = 0.558) or preterm prelabor rupture of the membranes before 34 weeks (7.7% vs 5.4%; P = 0.853), or in the median gestational age at delivery (36.2 vs 37.3 weeks; P = 0.706). CONCLUSIONS: RFA is a promising tool for early selective fetal reduction in MC pregnancy before 16 weeks. Four or more ablation cycles is a major risk factor for cotwin loss. Careful assessment pre- and post-RFA, together with proficient operative skills to minimize the number of ablation cycles, are the mainstay to ensure that this procedure is effective and safe. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Redução de Gravidez Multifetal , Gravidez Múltipla , Adulto , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Complicações Pós-Operatórias , Gravidez , Resultado da Gravidez , Trimestres da Gravidez , Ablação por Radiofrequência , Estudos Retrospectivos
3.
Andrology ; 4(4): 695-705, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-27070915

RESUMO

Attention-deficit/hyperactivity disorder (ADHD) is male predominated, and the etiology of this disorder remains unclear. Past studies have assessed the association of low-level organophosphate pesticide exposure with childhood ADHD cross-sectionally and prospectively. However, the results have been inconsistent. A first case-control study was performed to investigate the relationship between organophosphate pesticide exposure and ADHD with adjusted covariates. We recruited 97 doctor-diagnosed ADHD cases and 110 non-ADHD controls who were 4-15 years of age. Exposure was assessed using urinary levels of dialkylphosphate metabolites, which are biomarkers of OP pesticide exposure. Blood lead levels and polymorphisms of two commonly verified dopaminergic-related genes (the D4 dopamine receptor gene DRD4 and the dopamine transporter gene DAT1) were also analyzed. The sociodemographics and lifestyles of the children and of the mothers during pregnancy were collected using a questionnaire. The blood lead levels of both groups were similar (1.57 ± 0.73 vs. 1.73 ± 0.77 µg/dL, p = 0.15). Significant urinary concentration differences in one of the six dialkylphosphate metabolites, dimethylphosphate (DMP), were found between ADHD and control subjects (322.92 ± 315.68 vs. 224.37 ± 156.58 nmol/g cr., p < 0.01). A dose-response relationship was found between urinary concentrations of DMP and ADHD in both crude and adjusted analyses (p for trend<0.05). Children with higher urinary DMP concentrations may have a twofold to threefold increased risk of being diagnosed with ADHD. We report a dose-response relationship between child DMP levels and ADHD. Organophosphate pesticide exposure may have deleterious effects on children's neurodevelopment, particularly the development of ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Exposição Ambiental/efeitos adversos , Organofosfatos/toxicidade , Praguicidas/toxicidade , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/induzido quimicamente , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/metabolismo , Biomarcadores/urina , Estudos de Casos e Controles , Criança , Pré-Escolar , Proteínas da Membrana Plasmática de Transporte de Dopamina/genética , Relação Dose-Resposta a Droga , Feminino , Humanos , Chumbo/sangue , Masculino , Compostos Organofosforados/urina , Polimorfismo de Nucleotídeo Único , Receptores de Dopamina D4/genética , Fatores de Risco , Taiwan
4.
Diabet Med ; 33(12): 1649-1654, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27100138

RESUMO

AIM: To assess the relationship between plasma neutrophil gelatinase-associated lipocalin (NGAL) levels and diabetic retinopathy in patients with Type 2 diabetes. METHODS: In total, 204 patients with Type 2 diabetes were investigated in this cross-sectional study. They were classified as having no diabetic retinopathy, non-proliferative diabetic retinopathy (NPDR) or proliferative retinopathy (PDR), according to the degree of diabetic retinopathy. Thus, diabetic retinopathy in the patients in this study was either NPDR or PDR. RESULTS: Plasma NGAL concentrations were significantly higher in patients with diabetic retinopathy than in those without. The mean plasma NGAL levels differed significantly according to the severity of diabetic retinopathy (no diabetic retinopathy, 120.8 ng/ml; NPDR, 217.8 ng/ml; PDR, 372.4 ng/ml; P for trend = 0.002) after adjustment for other covariates. In multivariable analysis, plasma NGAL levels were significantly associated with diabetic retinopathy (odds ratio for each standard deviation increase in the logarithmic value, 7.75; 95% confidence interval, 2.04-29.41, P = 0.003). CONCLUSION: Plasma NGAL levels were positively associated with diabetic retinopathy in patients with Type 2 diabetes.


Assuntos
Diabetes Mellitus Tipo 2/etiologia , Retinopatia Diabética/etiologia , Lipocalina-2/fisiologia , Idoso , Análise de Variância , Biomarcadores/metabolismo , Estudos Transversais , Diabetes Mellitus Tipo 2/sangue , Retinopatia Diabética/sangue , Feminino , Humanos , Lipocalina-2/metabolismo , Masculino , Pessoa de Meia-Idade
5.
Exp Clin Endocrinol Diabetes ; 123(10): 627-31, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26216366

RESUMO

AIMS: Previous studies have reported that cystatin C is associated with degenerative disorder in the nervous system. However, the relationship between serum cystatin C concentrations and cardiovascular autonomic neuropathy (CAN) in patients with type 2 diabetes is currently unknown. The aim of this study was to assess the relationships between serum cystatin C levels and CAN in patients with type 2 diabetes. METHODS: A total of 357 patients with type 2 diabetes were studied in this cross-sectional study. CAN was diagnosed by a cardiovascular autonomic reflex test. According to the American Diabetes Association criteria, the degree of cardiovascular autonomic dysfunction was graded as normal, early, definite, or severe. CAN was either definite or severe in the subjects of the present study. RESULTS: Serum cystatin C concentrations were significantly higher in patients with CAN than in those without CAN. The mean cystatin C levels differed significantly according to the degree of cardiovascular autonomic dysfunction (normal, 0.78 mg/l; early, 0.79 mg/l; definite, 0.87 mg/l; severe, 0.90 mg/l; P for trend=0.021) after adjustment for other covariates. In multivariate analysis, serum cystatin C levels were significantly associated with CAN (odds ratio [OR] of each standard deviation increase in the logarithmic value, 5.25; 95% confidence interval [CI], 1.17-23.70, P=0.025). CONCLUSIONS: Serum cystatin C levels are positively associated with CAN in patients with type 2 diabetes.


Assuntos
Doenças Cardiovasculares/sangue , Cistatina C/sangue , Diabetes Mellitus Tipo 2/sangue , Neuropatias Diabéticas/sangue , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
6.
Ultrasound Obstet Gynecol ; 45(6): 728-33, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25331305

RESUMO

OBJECTIVES: Levator ani muscle (LAM) injury is common after first vaginal delivery, and a higher incidence is associated with instrumental delivery. This study was conducted to compare the incidence of LAM injury after forceps or ventouse extraction in primiparous Chinese women, and to study their subsequent health-related quality of life. METHODS: This prospective observational study was conducted between 1 September 2011 and 31 May 2012 in a tertiary obstetric unit. All eligible primiparous women who had undergone instrumental delivery were recruited 1 to 3 days following delivery. The subjects completed the Pelvic Floor Distress Inventory questionnaire and Pelvic Floor Impact Questionnaire, and translabial ultrasound was performed 8 weeks' postpartum to determine whether the subjects had suffered LAM injury. RESULTS: Among the 289 women who completed the study, 247 (85.5%) had ventouse extraction and 42 (14.5%) had forceps delivery. Subsequent translabial ultrasound identified a total of 58 women with LAM injury. The prevalence of LAM injury after ventouse extraction and forceps delivery was 16.6% (95% CI, 12.0-21.2%) (41/247) and 40.5% (95% CI, 25.6-55.4%) (17/42), respectively (P = 0.001). Forceps delivery was identified as a risk factor for LAM injury, with an odds ratio of 3.54. No statistically significant differences were observed between the quality of life in women who underwent ventouse extraction and those with forceps delivery or between the quality of life in women with a unilateral or bilateral LAM injury. CONCLUSIONS: In our cohort of primiparous Chinese women, 20.1% (58/289) had LAM injury after instrumental delivery, and forceps delivery was identified as the only risk factor.


Assuntos
Extração Obstétrica/efeitos adversos , Músculo Esquelético/lesões , Diafragma da Pelve/lesões , Adulto , Povo Asiático , China , Extração Obstétrica/métodos , Feminino , Humanos , Músculo Esquelético/diagnóstico por imagem , Forceps Obstétrico/efeitos adversos , Paridade , Diafragma da Pelve/diagnóstico por imagem , Gravidez , Estudos Prospectivos , Qualidade de Vida , Fatores de Risco , Inquéritos e Questionários , Ultrassonografia
7.
Diabet Med ; 31(11): 1316-22, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24910105

RESUMO

AIMS: To investigate the relationship between physiological serum total bilirubin concentrations and serum C-peptide levels in Korean patients with Type 2 diabetes. METHODS: A total of 588 patients with Type 2 diabetes were investigated in this cross-sectional study. Fasting C-peptide level, 2-h postprandial C-peptide level and ΔC-peptide (postprandial C-peptide minus fasting C-peptide) level were measured in all patients. RESULTS: Fasting C-peptide level, postprandial C-peptide level and ΔC-peptide level tended to be higher in patients with higher bilirubin concentrations. Partial correlation analysis showed that serum bilirubin levels were significantly correlated with fasting C-peptide level (r = 0.159, P < 0.001), postprandial C-peptide level (r = 0.209, P < 0.001) and ΔC-peptide level (r = 0.186, P < 0.001) after adjustment for other covariates. In the multivariate model, the association between serum bilirubin concentrations and serum C-peptide levels remained significant after adjustment for confounding factors including age, gender, familial diabetes, hypertension, hyperlipidaemia, BMI, HbA1c , duration of diabetes and associated liver function tests (fasting C-peptide level: ß = 0.083, P = 0.041; postprandial C-peptide level: ß = 0.106, P = 0.005; ΔC-peptide level: ß = 0.096, P = 0.015, respectively). CONCLUSIONS: Serum bilirubin concentrations within the physiological range were positively associated with serum C-peptide levels in patients with Type 2 diabetes.


Assuntos
Bilirrubina/sangue , Peptídeo C/sangue , Diabetes Mellitus Tipo 2/sangue , Células Secretoras de Insulina/metabolismo , Insulina/metabolismo , Estresse Oxidativo , Adulto , Idoso , Biomarcadores/sangue , Estudos Transversais , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/metabolismo , Diabetes Mellitus Tipo 2/fisiopatologia , Progressão da Doença , Jejum , Feminino , Hospitais Universitários , Humanos , Hipoglicemiantes/uso terapêutico , Secreção de Insulina , Células Secretoras de Insulina/efeitos dos fármacos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Ambulatório Hospitalar , Estresse Oxidativo/efeitos dos fármacos , Período Pós-Prandial , República da Coreia
8.
Diabet Med ; 31(2): 185-91, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24147832

RESUMO

AIMS: Although severe hyperbilirubinaemia causes kernicterus in neonates, normal to modestly elevated bilirubin concentrations have been reported to be neuroprotective. However, the relationship between serum bilirubin concentrations and cardiovascular autonomic neuropathy in patients with Type 2 diabetes is currently unknown. This study assessed the relationships between physiological serum total bilirubin concentrations and cardiovascular autonomic neuropathy in patients with Type 2 diabetes. METHODS: A total of 2991 patients with Type 2 diabetes were investigated in this cross-sectional study. Cardiovascular autonomic neuropathy was diagnosed by a cardiovascular reflex test. According to the American Diabetes Association criteria, the degree of cardiovascular autonomic dysfunction was graded into normal, early, definite and severe. Cardiovascular autonomic neuropathy was either definite or severe in the present study. An analysis of covariance after adjustment for other covariates was performed. A logistic regression model was used to assess an association of cardiovascular autonomic neuropathy with serum total bilirubin tertiles. RESULTS: Serum total bilirubin concentrations were significantly lower in subjects with cardiovascular autonomic neuropathy. The mean total bilirubin values differed significantly according to the severity of cardiovascular autonomic dysfunction (normal 13.0 µmol/l; early 12.3 µmol/l; definite 11.8 µmol/l; severe 10.1 µmol/l; P for trend < 0.001) after adjustment for other covariates. In multivariate analysis, serum total bilirubin levels were significantly associated with cardiovascular autonomic neuropathy (odds ratio 0.36; 95% CI 0.21-0.63 for the highest vs. the lowest bilirubin tertile, P < 0.001). CONCLUSIONS: Serum total bilirubin concentrations within the physiologic range are inversely associated with the prevalence of cardiovascular autonomic neuropathy in patients with Type 2 diabetes.


Assuntos
Bilirrubina/sangue , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/epidemiologia , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/epidemiologia , Neuropatias Diabéticas/sangue , Neuropatias Diabéticas/epidemiologia , Adulto , Idoso , Doenças do Sistema Nervoso Autônomo/sangue , Doenças do Sistema Nervoso Autônomo/epidemiologia , Doenças do Sistema Nervoso Autônomo/etiologia , Doenças Cardiovasculares/etiologia , Estudos Transversais , Diabetes Mellitus Tipo 2/complicações , Neuropatias Diabéticas/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco
9.
Int J Obes (Lond) ; 37(4): 584-92, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22641065

RESUMO

OBJECTIVE: To investigate the inhibitory effect of cocoa polyphenol extract (CPE) on adipogenesis and obesity along with its mechanism of action. METHODS AND RESULTS: 3T3-L1 preadipocytes were cultured with isobutylmethylxanthine, dexamethasone and insulin (MDI), and male C57BL/6N mice (N=44) were fed a high-fat diet (HFD) for 5 weeks with or without CPE. CPE at 100 or 200 µg ml(-1) inhibited MDI-induced lipid accumulation without diminishing cell viability. In particular, CPE reduced the protein expression levels of PPARγ and CEBPα, and blocked mitotic clonal expansion (MCE) of preadipocytes by reducing proliferating signaling pathways. This in turn attenuates lipid accumulation during the differentiation of 3T3-L1 preadipocytes. CPE effectively suppressed MDI-induced phosphorylation of extracellular signal-regulated kinase (ERK) and Akt, and their downstream signals. We then examined whether CPE regulates insulin receptor (IR), a common upstream regulator of ERK and Akt. We found that although CPE does not affect the protein expression level of IR, it significantly inhibits the activity of IR kinase via direct binding. Collectively, the results suggested that CPE, a direct inhibitor of IR kinase activity, inhibits cellular differentiation and lipid accumulation in 3T3-L1 preadipocytes. Consistently, CPE attenuated HFD-induced body weight gain and fat accumulation in obese mice fed with a HFD. We also found that HFD-induced increased fasting glucose levels remained unaffected by CPE. CONCLUSION: This study demonstrates that CPE inhibits IR kinase activity and its proliferative downstream signaling markers, such as ERK and Akt, in 3T3-L1 preadipocytes, and also prevents the development of obesity in mice fed with a HFD.


Assuntos
Adipogenia/efeitos dos fármacos , Fármacos Antiobesidade/farmacologia , Cacau/química , Obesidade/tratamento farmacológico , Obesidade/metabolismo , Polifenóis/farmacologia , Receptor de Insulina/efeitos dos fármacos , Células 3T3-L1/efeitos dos fármacos , Animais , Western Blotting , Proliferação de Células , Células Cultivadas , Dieta Hiperlipídica , MAP Quinases Reguladas por Sinal Extracelular/metabolismo , Citometria de Fluxo , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Obesidade/prevenção & controle , Fosforilação , Polifenóis/química , Proteínas Proto-Oncogênicas c-akt/metabolismo
10.
J Int Med Res ; 39(5): 1773-82, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22117978

RESUMO

The model for end-stage liver disease (MELD) score is associated with the severity of liver failure in transplant patients. This study examined whether life-threatening stress factors during liver transplantation differed according to the patients' preoperative MELD scores. Forty-four patients who underwent living donor liver transplantation were divided into a high MELD group (MELD score ≥ 20) (n = 25) and a low MELD group (MELD score < 20) (n = 19). The volume of blood components transfused, acid-base homeostasis variables, and haemodynamic and oxidative variables were measured at each stage of the surgery. The systemic vascular resistance index was significantly lower in the high MELD group than in the low MELD group at all time points. The oxygen utility index and the oxygen extraction ratio were all significantly lower in the high MELD group than in the low MELD group only at the preanhepatic stage and not at later stages of surgery. Intraoperative transfusion volume and the severity of metabolic acidosis were not associated with the preoperative MELD score.


Assuntos
Desequilíbrio Ácido-Base/complicações , Transfusão de Sangue , Doença Hepática Terminal/cirurgia , Hemodinâmica , Transplante de Fígado , Índice de Gravidade de Doença , Adulto , Perda Sanguínea Cirúrgica , Doença Hepática Terminal/sangue , Doença Hepática Terminal/complicações , Doença Hepática Terminal/patologia , Feminino , Humanos , Doadores Vivos , Masculino , Pessoa de Meia-Idade , Oxirredução , Oxigênio/sangue , Estudos Prospectivos
11.
J Int Med Res ; 39(6): 2370-8, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22289556

RESUMO

Obesity is a chronic inflammatory state and adipose tissue serves as a source of inflammatory mediators. This study compared plasma levels of the proinflammatory cytokines interleukin-6 (IL-6) and tumour necrosis factor-α (TNF-α) in 20 morbidly obese patients (group O) undergoing laparoscopic Roux-en-Y gastric bypass surgery and in 20 non-obese control patients (group C) undergoing laparascopic gastrectomy. Blood was sampled preoperatively and at 3 and 24 h postoperatively. Postoperative IL-6 levels increased significantly in both groups, but were significantly lower in group O than in group C. Age- and anaesthetic timeadjusted IL-6 levels showed a significant increase at 24 h postoperatively compared with preoperative values in both groups; changes were significantly greater in group C. TNF-α levels did not change significantly over time, but were significantly lower in group O at 3 h postoperatively compared with group C. In conclusion, postoperative changes in IL-6 and TNF-α levels in morbidly obese patients were lower than in non-obese patients. Adipose tissue appears not to contribute to the acute postoperative inflammatory response.


Assuntos
Mediadores da Inflamação/sangue , Interleucina-6/sangue , Obesidade Mórbida/sangue , Obesidade Mórbida/cirurgia , Fator de Necrose Tumoral alfa/sangue , Adulto , Demografia , Feminino , Gastrectomia , Derivação Gástrica , Humanos , Laparoscopia , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Cuidados Pré-Operatórios
12.
J Int Med Res ; 38(4): 1519-29, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20926027

RESUMO

This study investigated the effects of high-dose vitamin C on oxygen free radical production and cardiac enzymes after tourniquet application and ischaemia-reperfusion injury during bilateral total knee replacement (TKR) in elderly patients. In the vitamin C (VC) group (VC group, n = 16), during surgery, patients received a priming bolus of 0.06 g/kg vitamin C with 100 ml saline followed by 0.02 g/kg vitamin C mixed with 30 ml saline, intravenously. The control group (n = 16) received no intra-operative vitamin C. In the VC group, malondialdehyde levels were lower, and arterial oxygen tension and mean blood pressure were higher, than in controls after post-operative deflation of both knee tourniquets. Troponin I levels were lower in the VC group than in controls 8 h post-operation. Administering high-dose vitamin C during bilateral TKR could prevent oxygen free radical production and a decline in arterial oxygen tension and mean blood pressure induced by ischaemia-reperfusion injury, thereby protecting the myocardium.


Assuntos
Artroplastia do Joelho , Ácido Ascórbico/administração & dosagem , Ácido Ascórbico/uso terapêutico , Miocárdio/enzimologia , Espécies Reativas de Oxigênio/metabolismo , Traumatismo por Reperfusão/tratamento farmacológico , Torniquetes , Idoso , Demografia , Relação Dose-Resposta a Droga , Feminino , Humanos , Masculino , Malondialdeído/metabolismo , Traumatismo por Reperfusão/fisiopatologia
13.
J Pathol ; 214(3): 387-93, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18085521

RESUMO

Perivascular epithelioid cell tumours (PEComas) are a family of tumours including classic angiomyolipoma, lymphangioleiomyomatosis, and clear epithelioid cell tumours reported under a variety of names such as epithelioid angiomyolipoma, pulmonary and extrapulmonary clear cell sugar tumour, and PEComa. Our previous comparative genomic hybridization study of PEComas demonstrated recurrent chromosomal aberrations including deletions on chromosome 16p, where the TSC2 gene is located. In this study, we focused on the alteration of chromosome 16p, including TSC2. We collected ten sporadic and two tuberous sclerosis complex-associated PEComas, as well as 14 sporadic classic hepatic and renal angiomyolipomas (AMLs) as controls. We used 16 microsatellite markers distributed along chromosome 16p to test for allelic imbalances on chromosome 16p and at TSC2, and two markers for TSC1. Furthermore, we carried out immunohistochemical staining for phospho-p706K, phospho-AKT, and phospho-S6 to evaluate the effect of TSC2 alterations on the mTOR signalling pathway. Loss of heterozygosity (LOH) was found in 11 PEComas and involved the region of the TSC2 locus in seven. Six classic angiomyolipomas had allelic changes at chromosome 16p. Microsatellite instability was detected in two PEComas. The incidence of genetic aberrations was significantly higher in the PEComa group. Only one PEComa showed LOH at the TSC1 locus. Eleven PEComas and 13 AMLs revealed elevated phospho-p70S6K accompanied by reduced phospho-AKT. Five PEComas and eight classic angiomyolipomas were positive for phospho-S6. The phosphorylation profile indicates functional activation of the mTOR pathway through a disrupted TSC1/2 complex. Our observations of frequent deletion of TSC2 and the mTOR signalling pathway provide evidence that the oncogenetic lineage of PEComa, as a distinct TSC2-linked neoplasm, is similar to that of angiomyolipoma.


Assuntos
Angiomiolipoma/genética , Biomarcadores Tumorais , Neoplasias Renais/genética , Proteínas Supressoras de Tumor/genética , Adolescente , Adulto , Alelos , Estudos de Casos e Controles , Criança , Mapeamento Cromossômico , Feminino , Humanos , Imuno-Histoquímica , Neoplasias Hepáticas/genética , Perda de Heterozigosidade , Masculino , Instabilidade de Microssatélites , Pessoa de Meia-Idade , Proteínas Quinases/genética , Serina-Treonina Quinases TOR , Proteína 2 do Complexo Esclerose Tuberosa
14.
Kidney Int ; 69(1): 165-72, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16374439

RESUMO

Heme oxygenase-1 (HO-1) is a rate-limiting enzyme in heme degradation, producing carbon monoxide (CO), which carries potent antiproliferative and anti-inflammatory effects in the vascular walls. Transcription of the HO-1 gene is regulated by the length polymorphism of dinucleotide guanosine thymine repeat (GT)(n) in the promoter region, which was measured in this study to determine its association with arteriovenous fistula (AVF) failure in Chinese hemodialysis (HD) patients in Taiwan. L allele means (GT)(n)>or=30 and S allele means (GT)n<30. Therefore, there are two L alleles for L/L genotype, one L and one S allele for L/S genotype, and two S alleles for S/S genotype. Among the 603 HD patients who were enrolled in this study, 178 patients had history of AVF failure, while 425 patients did not. Significant associations were found between AVF failure and the following factors (hazard ratio): longer HD duration (1.004 month), lower pump flow (0.993 ml/min), higher dynamic venous pressure (1.010 mmHg), location of AVF on the right side (1.587 vs left side) and upper arm (2.242 vs forearm), and L/L and L/S genotypes of HO-1 (2.040 vs S/S genotype). The proportion of AVF failure increased from 20.3% in S/S genotype and 31.0% in L/S genotype to 35.4% in L/L genotype (P=0.011). Relative incidences were 1/87.6 (1 episode per 87.6 patient-months), 1/129, and 1/224.9 for HD patients with L/L, L/S, and S/S genotypes, respectively (P<0.002). The unassisted patency of AVF at 5 years decreased significantly from 83.8% (124/148) to 75.1% (223/297) and 69% (109/158) in S/S, L/S, and L/L genotypes, respectively (P<0.0001). In comparison with HD patients with S/S genotype, those with L/L genotype had a higher prevalence of coronary artery disease (29.1 vs 14.2%; P=0.005). A longer length polymorphism with (GT)(n) >or=30 in the HO-1 gene was associated with a higher frequency of access failure and a poorer patency of AVF in HD patients. The longer GT repeat in the HO-1 promoter might inhibit gene transcription, and consequently offset the CO-mediated protective effect against vascular injury.


Assuntos
Derivação Arteriovenosa Cirúrgica/efeitos adversos , Repetições de Dinucleotídeos , Heme Oxigenase-1/genética , Polimorfismo Genético , Adulto , Idoso , Monóxido de Carbono/metabolismo , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Regiões Promotoras Genéticas , Análise de Regressão
15.
Br J Cancer ; 91(8): 1551-5, 2004 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-15365571

RESUMO

Areca (betel) chewing is associated with the high incidence of oral squamous cell carcinoma (OSCC) and oral submucous fibrosis (OSF) in Asians. Heme oxygenase-1 (HO-1), encoding an oxidative response protein, plays protective roles in cells. A (GT)n microsatellite repeat in HO-1 promoter shows polymorphisms and modulates the level of gene transcription. We examined allelotypic frequencies of (GT)n repeats in 83 controls, 147 OSCC and 71 OSF. All subjects were male areca chewers. Logistic regression was used to adjust the age confounding for odds ratio (OR). (GT)n repeat polymorphism was classified into short (S), medium (M) and long (L) alleles. The adjusted OR in OSCC subjects carrying L allelotype relative to S allelotype was 1.75. Buccal squamous cell carcinoma (BSCC) is the most common OSCC subset in areca chewers. L allelotype implied the risk of BSCC with adjusted OR of 2.05, whereas M allelotype appeared protective for non-BSCC with adjusted OR of 0.49. Our findings indicated that longer (GT)n repeat allele in HO-1 promoter is associated with the risks of areca-related OSCC, while the shorter (GT)n repeat allele may have protective effects for OSCC.


Assuntos
Areca , Carcinoma de Células Escamosas/genética , Heme Oxigenase (Desciclizante)/genética , Neoplasias Bucais/genética , Polimorfismo Genético/genética , Regiões Promotoras Genéticas/genética , Carcinoma de Células Escamosas/enzimologia , Carcinoma de Células Escamosas/patologia , Repetições de Dinucleotídeos , Predisposição Genética para Doença , Heme Oxigenase (Desciclizante)/metabolismo , Heme Oxigenase-1 , Humanos , Incidência , Masculino , Proteínas de Membrana , Repetições de Microssatélites , Neoplasias Bucais/enzimologia , Neoplasias Bucais/patologia , Plantas Tóxicas , Fatores de Risco
16.
Abdom Imaging ; 29(4): 439-42, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15024518

RESUMO

We present a surgically proven case of infradiaphragmatic pulmonary sequestration combined with cystic adenomatoid malformation. Prenatal magnetic resonance imaging revealed a well-defined hyperintense mass with a hypointense septum in the left infradiaphragmatic region. Postdelivery computed tomography (CT) and 3-month follow-up CT showed replacement of intralesional cystic areas by solid content. Such unusual postnatal CT changes, to our knowledge, have not been previously documented.


Assuntos
Sequestro Broncopulmonar/complicações , Sequestro Broncopulmonar/diagnóstico por imagem , Malformação Adenomatoide Cística Congênita do Pulmão/complicações , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adulto , Sequestro Broncopulmonar/diagnóstico , Sequestro Broncopulmonar/cirurgia , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico , Malformação Adenomatoide Cística Congênita do Pulmão/cirurgia , Diagnóstico Diferencial , Feminino , Doenças Fetais/diagnóstico , Seguimentos , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Masculino , Gravidez , Diagnóstico Pré-Natal/métodos , Radiografia Abdominal/métodos
17.
Heredity (Edinb) ; 90(1): 98-106, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12522432

RESUMO

Cinnamomum insularimontanum Hayata (Lauraceae) is an insect-pollinated, broad-leaved evergreen tree with bird-dispersed seeds. We used allozyme loci, Wright's fixation index, spatial autocorrelation statistics (Moran's I), and coancestry measures to examine changes in genetic structure among four age-classes within a recently founded study population (60 x 100 m area) in southern Korea. There were no significant differences in expected heterozygosity among age classes. However, significant genetic differentiation among age classes was detected (P<0.0001). Fixation indices within age classes showed significant deficits of observed heterozygosity, which may be caused by partial selfing. The homogeneity of genetic structure among four age-classes may reflect similar spatial patterns of seed immigration from surrounding populations occurring year after year. Finally, the average Moran's I and coancestry estimates indicated essentially random spatial distributions of alleles for each of the four age-classes and between seedlings and 2-4 year juveniles vs adult trees. These findings are very similar to those observed in the same study area for another member of the Lauraceae, Neolitsea sericea, which has a very similar life history and ecological characteristics (ie, bird-dispersed fruits, insect pollination, and a similar age structure). Together, these results suggest that the fleshy drupes of lauraceous species represent an adaptation to aid in the independent dispersal of seed by birds, which in turn may increase the genetic diversity of founders colonizing new habitats.


Assuntos
Cinnamomum/genética , Genética Populacional , Evolução Biológica , Enzimas/genética , Polimorfismo Genético , Fatores de Tempo
18.
Am J Perinatol ; 18(8): 421-6, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11733856

RESUMO

Neonatal lupus erythematosus (NLE) is a syndrome with the manifestation of dermatological, cardiac, hepatic, or hematological abnormalities. Thrombocytopenia has been documented infrequently in association with congenital heart block or lupus dermatitis in NLE. However, isolated neonatal thrombocytopenia may be the only manifestation of NLE. The strong association with maternal anti-SSA/Ro antibodies suggests a role for these antibodies in the pathogenesis of NLE. There are some data to suggest that anti-SSB/La and, rarely, anti-RNP antibodies play an important pathological role in some cases of NLE. The manifestation of anti-RNP-positive NLE was somewhat atypical. We report a case of anti-RNP-positive NLE with the manifestation of thrombocytopenia. Anti-SSA/Ro antibodies, which were negative based on the use of immunodiffusion, did exhibit low titer when later tested by enzyme-linked immunoadsorbent assay (ELISA).


Assuntos
Anticorpos Antinucleares/análise , Lúpus Eritematoso Sistêmico/imunologia , Humanos , Recém-Nascido , Masculino , Trombocitopenia/imunologia
19.
J Mol Med (Berl) ; 79(5-6): 338-42, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11485030

RESUMO

Congenital defects in human chromosome 22q11 deletion syndromes are associated with the 3rd and 4th pharyngeal pouch during fetal development. In the cardiovascular system, these disorders are usually apparent as conotruncal heart defects and aortic arch anomalies. UFD1L, a gene that is downregulated in dHAND-deficient mice, expressed in the mouse embryo at the branchial arch and mapped to human chromosome 22q11, has recently been strongly suspected to be responsible for the phenotypes expressed in 22q11 deletion syndromes. Its putative causal role in relevant congenital cardiovascular malformations was studied by gene dosage analysis, mutation screening and sequence analyses. Sixty cases of tetralogy of Fallot with no detectable chromosome deletion at 22q11 or 10p13 were examined, including 51 cases of simple tetralogy of Fallot, and 9 cases of tetralogy of Fallot with pulmonary atresia. None of these patients revealed deletion limited to a portion of the UFD1L gene. Although mobility shift was found by heteroduplex analysis in 24 cases at exon 4 and flanking sequences, further sequence analysis demonstrated only two silent nucleotide variations and a single nucleotide polymorphism in intron 4. Our data suggest that, although the UFD1L gene is mapped to 22q11 and is expressed during early murine development at both cardiac and cranial neural crests, it is not responsible for the majority of tetralogy of Fallot cases in humans.


Assuntos
Mutação/genética , Proteínas/genética , Tetralogia de Fallot/genética , Proteínas Adaptadoras de Transporte Vesicular , Sequência de Aminoácidos , Sequência de Bases/genética , Cromossomos Humanos Par 22/genética , Análise Mutacional de DNA , Éxons/genética , Dosagem de Genes , Testes Genéticos , Análise Heteroduplex , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Íntrons/genética , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único/genética , Proteínas/química
20.
Acta Paediatr Taiwan ; 42(3): 166-8, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11431863

RESUMO

Neonatal ascites is an uncommon problem that may be caused by a number of etiologies including diseases of genitourinary system and gastrointestinal system, cardiac disease, hepatic disease, systemic infection such as TORCH or parvovirus, chylous, ovarian cause, inborn error of metabolism and idiopathic. We reported two cases of neonatal ascites, one was caused by cytomegalovirus and no obvious causes could be detected in the second one. The ascites were diagnosed by prenatal ultrasound at the gestational age of 25 weeks and 37 weeks respectively and were resolved spontaneously after birth. One-year follow-up of both cases revealed normal growth and development. No recurrent ascites could be detected by abdominal sonography except for evidence of mild hepatomegaly that was noted in case 1. Thus, isolated fetal and neonatal ascites without other concomitant abnormalities were diagnosed, a separate entity from non-immune hydrops fetalis with excellent prognosis.


Assuntos
Ascite/congênito , Infecções por Citomegalovirus/complicações , Doenças Fetais/virologia , Ascite/diagnóstico por imagem , Ascite/virologia , Infecções por Citomegalovirus/congênito , Doenças Fetais/diagnóstico por imagem , Humanos , Recém-Nascido , Masculino , Ultrassonografia Pré-Natal
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